A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330594



Internal ID15177583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231415082..231415101hg38UCSC Ensembl
Innerchr2:231415078..231415105hg38UCSC Ensembl
Outerchr2:231415059..231415124hg38UCSC Ensembl
chr2:232279793..232279812hg19UCSC Ensembl
Innerchr2:232279789..232279816hg19UCSC Ensembl
Outerchr2:232279770..232279835hg19UCSC Ensembl
chr2:231988037..231988056hg18UCSC Ensembl
Innerchr2:231988060..231988033hg18UCSC Ensembl
Outerchr2:231988014..231988079hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678596
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330594
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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